Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Serpinb9b'

471240

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9b

Ensembl Gene

ENSMUSG00000021403

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9b

Synonyms

1600019A21Rik, Spi10, ovalbumin, SPI-CI, R86

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33027416-33041884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33039848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 341 (L341P)

Ref Sequence

ENSEMBL: ENSMUSP00000006392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006392]

AlphaFold

Q9DAV6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006392
AA Change: L341P

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: L341P

Domain	Start	End	E-Value	Type
SERPIN	13	377	7.86e-164	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220566

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably damaging	Het

Other mutations in Serpinb9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Serpinb9b	APN	13	33035625	missense	probably benign	0.00
IGL00518:Serpinb9b	APN	13	33039570	missense	probably benign	0.17
IGL01939:Serpinb9b	APN	13	33039665	missense	probably damaging	0.99
IGL02472:Serpinb9b	APN	13	33039970	utr 3 prime	probably benign
IGL02632:Serpinb9b	APN	13	33039823	missense	probably benign	0.01
R0255:Serpinb9b	UTSW	13	33038020	missense	probably benign
R0667:Serpinb9b	UTSW	13	33032926	nonsense	probably null
R0699:Serpinb9b	UTSW	13	33033566	missense	probably benign	0.00
R0703:Serpinb9b	UTSW	13	33032981	missense	probably benign	0.29
R1605:Serpinb9b	UTSW	13	33038129	critical splice donor site	probably null
R1623:Serpinb9b	UTSW	13	33029565	missense	possibly damaging	0.61
R1815:Serpinb9b	UTSW	13	33039904	missense	probably damaging	1.00
R1920:Serpinb9b	UTSW	13	33039548	critical splice acceptor site	probably null
R1987:Serpinb9b	UTSW	13	33029559	missense	probably benign	0.07
R1988:Serpinb9b	UTSW	13	33029559	missense	probably benign	0.07
R3035:Serpinb9b	UTSW	13	33029546	missense	possibly damaging	0.81
R3683:Serpinb9b	UTSW	13	33029598	missense	probably damaging	0.98
R3758:Serpinb9b	UTSW	13	33035588	missense	probably damaging	1.00
R4677:Serpinb9b	UTSW	13	33039823	missense	probably damaging	0.97
R5412:Serpinb9b	UTSW	13	33029513	missense	probably benign	0.00
R5481:Serpinb9b	UTSW	13	33038093	missense	possibly damaging	0.93
R5672:Serpinb9b	UTSW	13	33039599	missense	probably benign	0.01
R6797:Serpinb9b	UTSW	13	33029484	missense	possibly damaging	0.60
R7586:Serpinb9b	UTSW	13	33039760	missense	probably damaging	1.00
R8115:Serpinb9b	UTSW	13	33035548	missense	probably null	0.94
R8309:Serpinb9b	UTSW	13	33039571	missense	probably damaging	1.00
R8529:Serpinb9b	UTSW	13	33039560	missense	probably benign	0.04
R8802:Serpinb9b	UTSW	13	33029604	missense	probably benign
R8810:Serpinb9b	UTSW	13	33029469	missense	possibly damaging	0.83
R9020:Serpinb9b	UTSW	13	33039904	missense	probably damaging	1.00
R9310:Serpinb9b	UTSW	13	33035540	missense	probably benign
R9424:Serpinb9b	UTSW	13	33029561	missense	probably damaging	0.99
X0019:Serpinb9b	UTSW	13	33035531	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGGTCCACTGAGGTTAAGG -3'
(R):5'- ATTCTCACGGAGCTGTAGGAG -3'

Sequencing Primer
(F):5'- AGATGAAATCTGTGCTTCAGTGC -3'
(R):5'- CACGGAGCTGTAGGAGTGGTG -3'

Posted On

2017-03-31